Wellderly Case-Control analysis published: Wellderly are those with the healthy-aging phenotype, the “disease-free aging in humans without medical interventions.” The cohort of 511 “Wellderly” have a significantly lower genetic risk for Alzheimer disease and coronary artery disease, but no difference for diabetes or cancer risk. One of the first examples of WGS case-control looking at both rare and common variants.

Across nearly 600,000 individuals, 13 were found that should have died from disease — so called genetic superheros. Following up with these 13 is impossible because of how they were consented, and Daniel MacArthur uses this to make a call for “a willingness of participants to donate their genomic and clinical data, and a commitment by researchers and regulators to overcome the daunting obstacles to data sharing on a global scale.”

New development for gene-editing: “the new technique basically means that CRISPR just went from handling DNA like a meat cleaver — to handling it like a scalpel”

A second Chinese group have published the results of using CRISPR on (non-viable) human embryos, attempting to knock out the CCR5 gene, a mutation known to protect against HIV. 4 of the 26 embryos were successfully edited.

The article also performs a cost-benefit analysis of WGS, with all scenarios they test coming out on the benefit side.

The Broad Institute, who maintains the most frequently used variant-calling pipeline, GATK, is launching GATK in the cloud, across all the main providers.

Envision, a spin-out company from Hudson-Alpha, are offering WGS in a clinical setting for $6500. They claim analysis times of 1-1.5 hours, based on their software, Codi. The group has been controversial in its advocacy of WGS rather than WES. They say the number of variants that end up being analyzed are almost identical for exomes versus genomes, but some diagnoses are possible with WGS and not in WES.